FECH gene mutation in a Chinese family with erythropoietic protoporphyria
10.3760/cma.j.issn.0412-4030.2009.08.016
- VernacularTitle:红细胞生成性原卟啉病一家系中亚铁螯合酶基因突变的检测
- Author:
Shaona ZHOU
;
Zhenhui PENG
;
Shengxiang XIAO
;
Xiaoli LI
;
Yan LIU
;
Boxun LI
- Publication Type:Journal Article
- Keywords:
Protoporphyria,erythropoietic;
Ferrochelatase;
DNA mutational analysis
- From:
Chinese Journal of Dermatology
2009;42(8):569-571
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the FECH gene mutation in a Chinese family with erythropoietic protoporphyria, to explore the relationship between gene mutation and clinical manifestations so as to estab-lish a basis for the genetic diagnosis and treatment of erythropoietic protoporphyria. Methods Clinical data on a Chinese family with typical EPP was collected. Peripheral blood was obtained from patients, unaffected individuals in the family and 50 unrelated human controls. Genomic DNA was extracted and PCR was per-formed to amplify the whole coding regions (exons 1 to 11) of FECH gene and their flanking intron sequences followed by direct sequencing to detect possible mutations. Results Based on clinical symptom and por-phyrin levels, a diagnosis of erythropoietic protoporphyria was made in 3 family members. DNA fragments of expected size were amplified by PCR. Gene sequencing revealed a heterozygons mutation (IVS1 + 1G >C) in intron 1 of FECH gene in the proband, his sister and father, but not in unaffected family members or unrelated human controls. Also, an IVS1-23C/T polymorphism associated with low expression alleles was observed in intron 1 of FECH gene of the proband, his sister and mother. Conclusions A novel mutation in the donor splice site of intron 1 of FECH gene is first reported in a Chinese family with EPP; this muta-tion may lead to a deficiency of FECH gene and serve as a molecular basis of development of erythropoietic protoporphyria.
